{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T01:26:46Z","timestamp":1783906006284,"version":"3.55.0"},"reference-count":11,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T00:00:00Z","timestamp":1783900800000},"content-version":"vor","delay-in-days":11,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>KCNJ11 mutations can cause congenital hyperinsulinism or diabetes mellitus. In children, seizures are typically associated with stress-induced hyperglycemia (150-200\u2005mg\/dL [8.3-11.1\u2005mmol\/L]; reference range, 73-109\u2005mg\/dL [4.1-6.1\u2005mmol\/L]). We report a 7-year-old boy with complex febrile status epilepticus who was incidentally found to have severe hypoglycemia (20\u2005mg\/dL [1.1\u2005mmol\/L]). On admission, plasma glucose was 157\u2005mg\/dL (8.7\u2005mmol\/L) after intravenous glucose administration, with an insulin level of 14.7\u2005\u03bcU\/mL (88.2\u2005pmol\/L; reference range, 2.19-9.89\u2005\u03bcU\/mL [13.1-59.3\u2005pmol\/L]) and suppressed ketones (3-hydroxybutyrate 65\u2005\u03bcmol\/L [0.065\u2005mmol\/L]; reference range, 0-74\u2005\u03bcmol\/L [0-0.074\u2005mmol\/L]). Retrospective review revealed neonatal hyperinsulinemic hypoglycemia (plasma glucose 34\u2005mg\/dL [1.9\u2005mmol\/L], insulin 5.2\u2005\u03bcU\/mL [31.2\u2005pmol\/L]). At ages 4 and 5 years, prolonged febrile seizures occurred with lower-than-expected glucose levels (103\u2005mg\/dL [5.7\u2005mmol\/L] and 127\u2005mg\/dL [7.0\u2005mmol\/L]). The mother had gestational diabetes mellitus followed by type 2 diabetes. Genetic testing identified a novel heterozygous nonsense pathogenic variant in KCNJ11 (p.Trp90Ter). A fasting study showed no hypoglycemia, and diazoxide was not initiated. KCNJ11 mutations can cause hypoglycemia beyond infancy, highlighting the need for genetic evaluation in atypical pediatric presentations.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag183","type":"journal-article","created":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T01:03:09Z","timestamp":1783904589000},"source":"Crossref","is-referenced-by-count":0,"title":["Intermittent hyperinsulinemic hypoglycemia due to a\n                    <i>KCNJ11<\/i>\n                    nonsense mutation in a child with febrile status epilepticus"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-8981-3756","authenticated-orcid":false,"given":"Tomohiro","family":"Otaka","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Dokkyo Medical University , Tochigi 321-0293 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Momoko","family":"Kubo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dokkyo Medical University , Tochigi 321-0293 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9941-7310","authenticated-orcid":false,"given":"Satomi","family":"Koyama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dokkyo Medical University , Tochigi 321-0293 ,","place":["Japan"]},{"name":"Department of Pediatrics, Dokkyo Medical University Saitama Medical Center , Saitama 343-8555 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2026,7,13]]},"reference":[{"issue":"4","key":"2026071220594331900_luag183-B1","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1177\/0883073815597757","article-title":"Children experiencing first-time or prolonged febrile seizure are prone to stress hyperglycemia","volume":"31","author":"Lee","year":"2016","journal-title":"J Child 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diabetes","volume":"41","author":"De Franco","year":"2020","journal-title":"Hum Mutat"},{"issue":"3","key":"2026071220594331900_luag183-B8","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1297\/cpe.26.127","article-title":"Clinical practice guidelines for congenital hyperinsulinism","volume":"26","author":"Yorifuji","year":"2017","journal-title":"Clin Pediatr Endocrinol"},{"issue":"1","key":"2026071220594331900_luag183-B9","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s11689-010-9059-y","article-title":"Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement","volume":"3","author":"Paul","year":"2011","journal-title":"J Neurodev Disord"},{"issue":"1","key":"2026071220594331900_luag183-B10","doi-asserted-by":"crossref","first-page":"171","DOI":"10.2214\/ajr.151.1.171","article-title":"Anomalies of the corpus callosum: correlation with further anomalies of the brain","volume":"151","author":"Barkovich","year":"1988","journal-title":"AJR Am J Roentgenol"},{"issue":"8","key":"2026071220594331900_luag183-B11","doi-asserted-by":"crossref","first-page":"2877","DOI":"10.1172\/JCI35414","article-title":"Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations","volume":"118","author":"Pinney","year":"2008","journal-title":"J Clin Invest"}],"container-title":["JCEM Case 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